Linked Data
dbSNP Id:
rs2068143
gnomAD v2:
15-63588662-G-A
gnomAD v3:
15-63296463-G-A
gnomAD v4:
15-63296463-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.63296463G>A , CM000677.2:g.63296463G>A | GRCh38 |
| NC_000015.9:g.63588662G>A , CM000677.1:g.63588662G>A | GRCh37 |
| NC_000015.8:g.61375715G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261879.10:c.479-5882G>A MANE Select | ENSP00000261879.5:n.479-5882G>A | |
| ENST00000261879.9:c.479-5882G>A | ENSP00000261879.5:n.479-5882G>A | |
| ENST00000380340.8:c.*297-5882G>A | ENSP00000369697.4:n.*297-5882G>A | |
| ENST00000380343.8:c.356-5882G>A | ENSP00000369700.4:n.356-5882G>A | |
| ENST00000558631.1:n.367-5882G>A | ||
| ENST00000559823.1:n.170+9078G>A | ||
| ENST00000559971.5:c.615-5882G>A | ENSP00000453516.1:n.615-5882G>A | |
| ENST00000560353.1:c.478+8917G>A | ENSP00000453327.1:n.478+8917G>A | |
| ENST00000560716.1:n.312+4466G>A | ||
| ENST00000560890.5:c.317-5882G>A | ENSP00000453002.1:n.317-5882G>A | |
| NM_001145646.1:c.356-5882G>A | NP_001139118.1:n.356-5882G>A | |
| NM_031301.3:c.479-5882G>A | NP_112591.2:n.479-5882G>A | |
| XM_011522105.1:c.479-5882G>A | XP_011520407.1:n.479-5882G>A | |
| XM_011522105.3:c.479-5882G>A | XP_011520407.1:n.479-5882G>A | |
| XM_024450085.1:c.317-5882G>A | XP_024305853.1:n.317-5882G>A | |
| XM_024450086.1:c.317-5882G>A | XP_024305854.1:n.317-5882G>A | |
| NM_031301.4:c.479-5882G>A MANE Select | NP_112591.2:n.479-5882G>A | |
| NM_001145646.2:c.356-5882G>A | NP_001139118.1:n.356-5882G>A |